Detalhe da pesquisa
1.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
2.
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Am J Hum Genet
; 106(6): 872-884, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470376
3.
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Genet Med
; 25(11): 100928, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37427568
4.
Genome sequencing in families with congenital limb malformations.
Hum Genet
; 140(8): 1229-1239, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159400
5.
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Clin Genet
; 100(6): 758-765, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34482537
6.
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Am J Med Genet A
; 182(9): 2068-2076, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32592542
7.
Noncoding copy-number variations are associated with congenital limb malformation.
Genet Med
; 20(6): 599-607, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236091
8.
A Matched Comparative Study of the Bilhaut Procedure Versus Resection and Reconstruction for Treatment of Radial Polydactyly Types II and IV.
J Hand Surg Am
; 41(5): e73-83, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26880498
9.
The unsolved problem of radial longitudinal dysplasia: how can we reliably prevent recurrence, preserve growth and optimize function?
J Hand Surg Eur Vol
; 48(3): 222-229, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36649124
10.
Ulnar dimelia - a review of 24 cases.
J Hand Surg Eur Vol
; 48(11): 1126-1135, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37684016
11.
State of the art review: The pathogenesis and management of Madelung deformity.
J Hand Surg Eur Vol
; 48(11): 1116-1125, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37572317
12.
[Differential therapeutic Approaches in congenital Malformations of the Hand]. / Differentialtherapeutische Zugänge bei kongenitalen Fehlbildungen an der Hand.
Handchir Mikrochir Plast Chir
; 54(3): 178-186, 2022 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-35688425
13.
Inter- and intra-rater reliability of the Oberg-Manske-Tonkin classification of congenital upper limb anomalies.
J Hand Surg Eur Vol
; 47(10): 1016-1024, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35748028
14.
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2.
Eur J Med Genet
; 64(3): 104161, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33571691
15.
[Commentary on the Article of S. Deininger et al.: Functional Outcome of Peripheral Nerve Injury after Pediatric Supracondylar Humerus Fracture: Comparison of Surgical and Conservative Treatment]. / Kommentar zum Artikel von S. Deininger et al.: Funktionelle Ergebnisse peripherer Nervenverletzungen nach kindlichen suprakondylären Humerusfrakturen: Vergleich operativer und konservativer Behandlung.
Handchir Mikrochir Plast Chir
; 56(1): 99-100, 2024 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-38508208
16.
[The interdisciplinary Microsurgeon - Results of the Consensus Workshop of the German Speaking Society for Microsurgery of Peripheral Nerves and Vessels]. / Der interdisziplinäre Mikrochirurg Ergebnisse des Konsensus-Workshops der Deutschsprachigen Arbeitsgemeinschaft für Mikrochirurgie der peripheren Nerven und Gefäße am Beispiel unterschiedlicher Board-Formate.
Handchir Mikrochir Plast Chir
; 51(4): 295-301, 2019 Aug.
Artigo
em Alemão
| MEDLINE | ID: mdl-31167234
17.
The European perspective on the Oberg-Manske-Tonkin classification: challenges for implementation, databases and registries.
J Hand Surg Eur Vol
; 45(10): 1112-1113, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106095
18.
Women in Handsurgery.
Handchir Mikrochir Plast Chir
; 51(5): 403, 2019 09.
Artigo
em Alemão
| MEDLINE | ID: mdl-31574555
19.
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
Orphanet J Rare Dis
; 9: 108, 2014 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231166
20.
Congenital longitudinal cleavage of the forearm.
J Hand Surg Eur Vol
; 43(4): 440-441, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29058965